Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

fibular aplasia, tibial campomelia, and oligosyndactyly syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

fibular aplasia, tibial campomelia, and oligosyndactyly syndrome

MONDO:0009526

Also known as:FATCO syndromefibular aplasia-tibial campomelia-oligosyndactyly syndrometerminal transverse defects of the limbs associated with congenital heart malformations

Overview

GeneticsSporadic (not inherited), Autosomal dominant

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Hand abnormalities (abnormality of the hand), Tibial bowing, Foot oligodactyly, and Fibular aplasia and 3 more.

Organ System	Phenotype Count	Example Features
Arms and legs	3	Hand abnormalities (abnormality of the hand), Foot oligodactyly, Finger aplasia

Explore clinical features

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for fibular aplasia, tibial campomelia, and oligosyndactyly syndrome.

2 publications have been identified in PubMed for fibular aplasia, tibial campomelia, and oligosyndactyly syndrome. Research spans Case Report / Case Series (100%).

Recent Publications

Mohamed K (2025). [PMID: 39938969](https://pubmed.ncbi.nlm.nih.gov/39938969/). *BMJ Case Rep*. [Case Report / Case Series]
Deftereou TE (2024). [PMID: 39176338](https://pubmed.ncbi.nlm.nih.gov/39176338/). *Cureus*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 7:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:246570

Orphanet

European rare disease database

Orphanet:480773

GARD

Genetic and Rare Diseases Info Center

GARD:2622

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

fibular aplasia, tibial campomelia, and oligosyndactyly syndrome

Overview

Clinical Presentation

Explore clinical features

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team